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G |
Apoo |
apolipoprotein O |
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ISO |
ClinVar Annotator: match by term: Lactic acidosis |
ClinVar |
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NCBI chr X:59,157,971...59,262,940
Ensembl chr X:59,158,049...59,262,940
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G |
Atp5f1a |
ATP synthase F1 subunit alpha |
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ISO |
ClinVar Annotator: match by term: Lactic acidosis |
ClinVar |
PMID:25741868 |
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NCBI chr18:71,292,406...71,300,342
Ensembl chr18:71,292,374...71,300,794
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G |
Dnm1l |
dynamin 1-like |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:17460227 |
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NCBI chr11:84,581,216...84,632,382
Ensembl chr11:84,581,216...84,631,482
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G |
Mt-atp6 |
mitochondrially encoded ATP synthase membrane subunit 6 |
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ISO |
ClinVar Annotator: match by term: Seizures and lactic acidosis |
ClinVar |
PMID:8739943 PMID:12915481 |
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NCBI chr MT:7,919...8,599
Ensembl chr MT:7,919...8,599
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G |
Mt-co3 |
mitochondrially encoded cytochrome c oxidase III |
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ISO |
ClinVar Annotator: match by term: Seizures and lactic acidosis |
ClinVar |
PMID:8739943 PMID:12915481 |
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NCBI chr MT:8,599...9,382
Ensembl chr MT:8,599...9,382
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G |
Mt-nd6 |
mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 |
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ISS |
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MouseDO |
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NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
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G |
Ndufs4 |
NADH:ubiquinone oxidoreductase subunit S4 |
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ISO |
ClinVar Annotator: match by term: Lactic acidosis |
ClinVar |
PMID:25741868 PMID:33093004 |
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NCBI chr 2:45,951,327...46,061,829
Ensembl chr 2:45,951,313...46,061,846
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G |
Pdha1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:2537010 |
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NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311
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G |
Plat |
plasminogen activator, tissue type |
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ISO |
CTD Direct Evidence: therapeutic |
CTD |
PMID:25331496 |
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NCBI chr16:69,240,582...69,265,177
Ensembl chr16:69,240,585...69,268,223
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G |
Pygl |
glycogen phosphorylase L |
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IAGP |
DNA:mutation:multiple |
RGD |
PMID:17705025 |
RGD:11071447 |
NCBI chr 6:88,697,598...88,740,260
Ensembl chr 6:88,697,593...88,740,310
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G |
Rrm2b |
ribonucleotide reductase regulatory TP53 inducible subunit M2B |
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ISO |
CTD Direct Evidence: marker/mechanism |
CTD |
PMID:19138848 |
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NCBI chr 7:69,077,024...69,108,742
Ensembl chr 7:69,078,291...69,108,633
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G |
Uqcrfs1 |
ubiquinol-cytochrome c reductase, Rieske iron-sulfur polypeptide 1 |
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ISO |
ClinVar Annotator: match by term: Lactic acidosis |
ClinVar |
PMID:31883641 |
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NCBI chr17:33,977,908...33,982,478
Ensembl chr17:33,977,921...33,982,479
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G |
Mrps16 |
mitochondrial ribosomal protein S16 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 2 |
OMIM ClinVar |
PMID:15505824 |
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NCBI chr15:3,918,621...3,921,024
Ensembl chr15:3,918,615...3,921,656
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G |
Avil |
advillin |
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ISO |
ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
ClinVar |
PMID:25741868 |
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NCBI chr 7:62,825,459...62,844,103
Ensembl chr 7:62,826,025...62,844,071
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G |
Smad3 |
SMAD family member 3 |
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ISO |
ClinVar Annotator: match by term: Combined oxidative phosphorylation deficiency 3 |
ClinVar |
PMID:25326637 PMID:28492532 |
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NCBI chr 8:64,126,829...64,236,960
Ensembl chr 8:64,110,039...64,236,960
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G |
Tsfm |
Ts translation elongation factor, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 |
OMIM ClinVar |
PMID:17033963 PMID:20435138 PMID:21119709 PMID:21169334 PMID:21741925 PMID:22277967 PMID:22499341 PMID:25037205 PMID:25741868 PMID:28492532 More...
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NCBI chr 7:62,828,997...62,864,784
Ensembl chr 7:62,845,488...62,864,769
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G |
Pc |
pyruvate carboxylase |
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ISO |
ClinVar Annotator: match by term: Congenital lactic acidosis |
ClinVar |
PMID:32581362 |
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NCBI chr 1:201,799,374...201,898,412
Ensembl chr 1:201,804,267...201,898,380
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G |
Pet100 |
PET100 cytochrome c oxidase chaperone |
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ISO |
ClinVar Annotator: match by term: Congenital lactic acidosis |
ClinVar |
PMID:25293719 PMID:25741868 |
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NCBI chr12:1,679,805...1,682,540
Ensembl chr12:1,679,859...1,682,540
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G |
Ppp1r12b |
protein phosphatase 1, regulatory subunit 12B |
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ISO |
ClinVar Annotator: match by term: Congenital lactic acidosis |
ClinVar |
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NCBI chr13:46,199,418...46,397,108
Ensembl chr13:46,201,251...46,397,108
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G |
Dld |
dihydrolipoamide dehydrogenase |
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ISO |
ClinVar Annotator: match by term: DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY | ClinVar Annotator: match by term: MAPLE SYRUP URINE DISEASE, TYPE III | ClinVar Annotator: match by term: Maple syrup urine disease, type 3 |
OMIM ClinVar |
PMID:1347528 PMID:1640293 PMID:3769994 PMID:7797549 PMID:8506365 PMID:8652022 PMID:8968745 PMID:9298831 PMID:9536098 PMID:9540846 PMID:9934985 PMID:10448086 PMID:11186938 PMID:11687750 PMID:12925875 PMID:14765544 PMID:15712224 PMID:15946682 PMID:16199547 PMID:16442803 PMID:16601893 PMID:16770810 PMID:17125710 PMID:17404228 PMID:17576681 PMID:18362926 PMID:20652410 PMID:20672374 PMID:21558426 PMID:21930696 PMID:23290025 PMID:23478190 PMID:23995961 PMID:24012808 PMID:24516753 PMID:25251739 PMID:25356417 PMID:25741868 PMID:25741884 PMID:27144126 PMID:27290639 PMID:27544700 PMID:28492532 More...
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NCBI chr 6:47,904,153...47,924,814
Ensembl chr 6:47,903,914...47,924,795
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G |
Bcs1l |
BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone |
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ISO |
ClinVar Annotator: match by term: GRACILE syndrome |
OMIM ClinVar |
PMID:9545407 PMID:11528392 PMID:12215968 PMID:12547234 PMID:12910490 PMID:16199547 PMID:17314340 PMID:17403714 PMID:18386115 PMID:18771761 PMID:19162478 PMID:19285991 PMID:19389488 PMID:19508421 PMID:20518024 PMID:20727375 PMID:21274865 PMID:22277166 PMID:22310368 PMID:23892085 PMID:24033266 PMID:24172246 PMID:24236502 PMID:24655110 PMID:25741868 PMID:25895478 PMID:25914718 PMID:26467025 PMID:26489029 PMID:26563427 PMID:27959697 PMID:28105683 PMID:28322498 PMID:28427446 PMID:28492532 PMID:28496993 PMID:30582773 PMID:30634555 PMID:31435670 More...
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NCBI chr 9:76,164,925...76,168,940
Ensembl chr 9:76,164,932...76,168,938
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G |
Lars2 |
leucyl-tRNA synthetase 2, mitochondrial |
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ISO |
ClinVar Annotator: match by term: Hydrops, lactic acidosis, and sideroblastic anemia |
OMIM ClinVar |
PMID:23541342 PMID:24033266 PMID:25741868 PMID:26537577 PMID:26970254 PMID:28492532 PMID:30737337 PMID:32442335 PMID:32747562 More...
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NCBI chr 8:123,010,271...123,108,957
Ensembl chr 8:123,010,293...123,106,395
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G |
Lias |
lipoic acid synthetase |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES | ClinVar Annotator: match by term: Pyruvate dehydrogenase lipoic acid synthetase deficiency |
OMIM ClinVar |
PMID:2152680 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22152680 PMID:24334290 PMID:25741868 PMID:26108146 PMID:26467025 PMID:27923773 PMID:28492532 More...
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NCBI chr14:42,876,699...42,893,824
Ensembl chr14:42,876,699...42,893,783
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G |
Rpl9 |
ribosomal protein L9 |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,893,945...42,897,140
Ensembl chr14:42,893,942...42,897,136
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G |
Ugdh |
UDP-glucose 6-dehydrogenase |
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ISO |
ClinVar Annotator: match by term: HYPERGLYCINEMIA, LACTIC ACIDOSIS, AND SEIZURES |
ClinVar |
PMID:28492532 |
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NCBI chr14:42,848,704...42,872,351
Ensembl chr14:42,848,854...42,872,354
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G |
Suclg1 |
succinate-CoA ligase GDP/ADP-forming subunit alpha |
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ISO |
ClinVar Annotator: match by term: Mitochondrial DNA depletion syndrome 9 |
OMIM ClinVar |
PMID:17287286 PMID:17668387 PMID:19526370 PMID:20197121 PMID:20453710 PMID:20693550 PMID:21639866 PMID:25326635 PMID:25741868 PMID:26475597 PMID:26827111 PMID:27484306 PMID:27896121 PMID:28492532 PMID:29217198 More...
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NCBI chr 4:105,308,236...105,337,595
Ensembl chr 4:105,308,039...105,337,600
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G |
Pnpla8 |
patatin-like phospholipase domain containing 8 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial myopathy with lactic acidosis |
OMIM ClinVar |
PMID:19840936 PMID:25512002 PMID:25741868 PMID:28492532 PMID:34782754 |
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NCBI chr 6:61,329,810...61,391,736
Ensembl chr 6:61,329,810...61,391,734
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G |
Mpc1 |
mitochondrial pyruvate carrier 1 |
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ISO |
ClinVar Annotator: match by term: Mitochondrial pyruvate carrier deficiency |
OMIM ClinVar |
PMID:12649063 PMID:22628558 PMID:25741868 |
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NCBI chr 1:52,437,745...52,449,369
Ensembl chr 1:52,437,741...52,449,400
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G |
Iscu |
iron-sulfur cluster assembly enzyme |
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ISO |
ClinVar Annotator: match by term: Myopathy with lactic acidosis, hereditary |
OMIM ClinVar |
PMID:18296749 PMID:18304497 PMID:19567699 PMID:19846308 PMID:20206689 PMID:21165651 PMID:22125086 PMID:25741868 PMID:28492532 More...
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NCBI chr12:42,852,305...42,858,150
Ensembl chr12:42,852,305...42,858,150
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G |
Adgrg2 |
adhesion G protein-coupled receptor G2 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532 More...
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NCBI chr X:34,297,402...34,422,590
Ensembl chr X:34,297,402...34,422,609
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G |
Cdkl5 |
cyclin-dependent kinase-like 5 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532 More...
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NCBI chr X:33,757,605...33,988,075
Ensembl chr X:33,821,257...33,986,582
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G |
Map3k15 |
mitogen-activated protein kinase kinase kinase 15 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr X:34,713,150...34,859,054
Ensembl chr X:34,713,175...34,858,807
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G |
Pdha1 |
pyruvate dehydrogenase E1 subunit alpha 1 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:1293379 PMID:1301207 PMID:1338114 PMID:1508605 PMID:1770778 PMID:1779625 PMID:1907799 PMID:1909401 PMID:1909778 PMID:2828359 PMID:3034892 PMID:3137520 PMID:7573035 PMID:7692352 PMID:7887409 PMID:7981697 PMID:8024267 PMID:8032855 PMID:8199595 PMID:8504306 PMID:8504309 PMID:8598634 PMID:8771169 PMID:8962591 PMID:9266390 PMID:9618178 PMID:9671272 PMID:9686362 PMID:10486093 PMID:10679936 PMID:10775534 PMID:11102541 PMID:11241048 PMID:12379317 PMID:12551913 PMID:17043409 PMID:17172462 PMID:18023225 PMID:18197404 PMID:20002125 PMID:20002461 PMID:20591708 PMID:21846590 PMID:21914562 PMID:22473288 PMID:23021068 PMID:23871722 PMID:24718837 PMID:25326635 PMID:25495354 PMID:25590979 PMID:25741868 PMID:25741876 PMID:26467025 PMID:26865159 PMID:26987331 PMID:28492532 PMID:28918066 PMID:29756269 PMID:29882371 PMID:31673819 More...
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NCBI chr X:34,700,481...34,714,309
Ensembl chr X:34,700,409...34,714,311
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G |
Pdhx |
pyruvate dehydrogenase complex, component X |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr 3:89,372,472...89,396,759
Ensembl chr 3:89,371,497...89,431,773
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G |
Phka2 |
phosphorylase kinase regulatory subunit alpha 2 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532 More...
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NCBI chr X:34,170,959...34,293,498
Ensembl chr X:34,171,323...34,293,466
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G |
Ppef1 |
protein phosphatase with EF-hand domain 1 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532 More...
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NCBI chr X:33,994,503...34,151,704
Ensembl chr X:34,021,350...34,151,701
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G |
Rs1 |
retinoschisin 1 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:9618178 PMID:17172462 PMID:20591708 PMID:21914562 PMID:22473288 PMID:28492532 More...
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NCBI chr X:33,963,657...33,992,115
Ensembl chr X:33,963,657...33,992,115
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G |
Sh3kbp1 |
SH3 domain-containing kinase-binding protein 1 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E1-alpha deficiency |
ClinVar |
PMID:28492532 |
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NCBI chr X:34,877,862...35,223,013
Ensembl chr X:34,877,866...35,222,747
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G |
Dlat |
dihydrolipoamide S-acetyltransferase |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
OMIM ClinVar |
PMID:9536098 PMID:16049940 PMID:16199547 PMID:17576681 PMID:25741868 PMID:28492532 PMID:29093066 More...
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NCBI chr 8:50,979,151...51,004,435
Ensembl chr 8:50,978,051...51,004,479
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G |
Pih1d2 |
PIH1 domain containing 2 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E2 deficiency |
ClinVar |
PMID:9536098 PMID:16049940 PMID:17576681 PMID:28492532 |
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NCBI chr 8:50,966,885...50,976,901
Ensembl chr 8:50,966,885...50,975,656
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G |
Apip |
APAF1 interacting protein |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency |
ClinVar |
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NCBI chr 3:89,431,973...89,457,999
Ensembl chr 3:89,432,037...89,458,340
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G |
Pdhx |
pyruvate dehydrogenase complex, component X |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase E3-binding protein deficiency |
OMIM ClinVar |
PMID:8229524 PMID:8584393 PMID:9399911 PMID:9467010 PMID:11935326 PMID:12557299 PMID:16566017 PMID:17152059 PMID:21937992 PMID:25087164 PMID:25326635 PMID:25741868 PMID:28492532 More...
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NCBI chr 3:89,372,472...89,396,759
Ensembl chr 3:89,371,497...89,431,773
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G |
Pdhb |
pyruvate dehydrogenase E1 subunit beta |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency |
ClinVar |
PMID:25741868 PMID:28492532 |
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NCBI chr15:16,752,561...16,758,503
Ensembl chr15:16,750,980...16,758,500
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G |
Pdp1 |
pyruvate dehydrogenase phosphatase catalytic subunit 1 |
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ISO |
ClinVar Annotator: match by term: Pyruvate dehydrogenase phosphatase deficiency |
OMIM ClinVar |
PMID:15855260 PMID:19184109 PMID:25741868 PMID:31392110 |
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NCBI chr 5:25,446,843...25,455,107
Ensembl chr 5:25,446,272...25,455,217
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